CYP21A2 - Gene browser

CYP21A2

cytochrome P450 family 21 subfamily A member 2

HCNC Approved Symbol: CYP21A2 (HGNC:2600)
Genomic Coordinates: 6:32,038,415 - 32,041,644 (6p21.33)
Synonyms: P450c21B, CA21H, CPS1, CAH1, CYP21, CYP21B
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

125Patients

In total, 125 patients were diagnosed with a variant in the CYP21A2 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

0125
Patient count

Elevated 17-hydroxyprogesterone: 74 (59.2%)
Patient Count: 74 (59.2%)
% of total patients presenting each phenotype is shown in parentheses.
74 (59.2%)
Hyponatremia: 66 (52.8%)
Patient Count: 66 (52.8%)
% of total patients presenting each phenotype is shown in parentheses.
66 (52.8%)
Hyperkalemia: 64 (51.2%)
Patient Count: 64 (51.2%)
% of total patients presenting each phenotype is shown in parentheses.
64 (51.2%)
Ambiguous genitalia: 59 (47.2%)
Patient Count: 59 (47.2%)
% of total patients presenting each phenotype is shown in parentheses.
59 (47.2%)
Vomiting: 31 (24.8%)
Patient Count: 31 (24.8%)
% of total patients presenting each phenotype is shown in parentheses.
31 (24.8%)